SPTBN2

spectrin beta, non-erythrocytic 2
OMIM: 604985, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SPTBN2 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386

Green SPTBN2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 5 MIM#600224
  • Spinocerebellar ataxia, autosomal recessive 14 MIM#615386

Green SPTBN2 in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386
  • Spinocerebellar ataxia 5, MIM# 600224

Green SPTBN2 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.573

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SPTBN2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386
  • Spinocerebellar ataxia 5, MIM# 600224

Green SPTBN2 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.20

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinocerebellar ataxia 5, 600224
    • Spinocerebellar ataxia, autosomal recessive 14, 615386

    Green SPTBN2 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386
    • Spinocerebellar ataxia 5, MIM# 600224

    Red SPTBN2 in Fetal anomalies


    Version 1.314

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Spinocerebellar ataxia 5 (MIM#600224)
    • Spinocerebellar ataxia, autosomal recessive 14 (MIM#615386)